Variant position: 303 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 621 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ENILGEVGDGFKVAMNILNS GRFSMGSVVAGLLKRLIEMTA
Mouse ENVLGEVGGGFKVAMNILNS GRFSMGSAVAGMLKKLIELTA
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
Haack T.B.; Danhauser K.; Haberberger B.; Hoser J.; Strecker V.; Boehm D.; Uziel G.; Lamantea E.; Invernizzi F.; Poulton J.; Rolinski B.; Iuso A.; Biskup S.; Schmidt T.; Mewes H.W.; Wittig I.; Meitinger T.; Zeviani M.; Prokisch H.;
Nat. Genet. 42:1131-1134(2010)
Cited for: INVOLVEMENT IN ACAD9 DEFICIENCY; VARIANTS ACAD9 DEFICIENCY ILE-44; TRP-193; PHE-234; GLN-266; SER-303; THR-326; CYS-417 AND TRP-532;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.